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38 results on '"Viel, Sebastien"'

1. High-efficiency transgene integration by homology-directed repair in human primary cells using DNA-PKcs inhibition

Author

Selvaraj, Sridhar, Feist, William N, Viel, Sebastien, Vaidyanathan, Sriram, Dudek, Amanda M, Gastou, Marc, Rockwood, Sarah J, Ekman, Freja K, Oseghale, Aluya R, Xu, Liwen, Pavel-Dinu, Mara, Luna, Sofia E, Cromer, M Kyle, Sayana, Ruhi, Gomez-Ospina, Natalia, and Porteus, Matthew H

Subjects
Medical Biotechnology, Biological Sciences, Biomedical and Clinical Sciences, Biotechnology, Genetics, Human Genome, 5.1 Pharmaceuticals, Development of treatments and therapeutic interventions, Humans, DNA-Activated Protein Kinase, Transgenes, Gene Editing, Recombinational DNA Repair, Protein Kinase Inhibitors, DNA End-Joining Repair
Abstract

Therapeutic applications of nuclease-based genome editing would benefit from improved methods for transgene integration via homology-directed repair (HDR). To improve HDR efficiency, we screened six small-molecule inhibitors of DNA-dependent protein kinase catalytic subunit (DNA-PKcs), a key protein in the alternative repair pathway of non-homologous end joining (NHEJ), which generates genomic insertions/deletions (INDELs). From this screen, we identified AZD7648 as the most potent compound. The use of AZD7648 significantly increased HDR (up to 50-fold) and concomitantly decreased INDELs across different genomic loci in various therapeutically relevant primary human cell types. In all cases, the ratio of HDR to INDELs markedly increased, and, in certain situations, INDEL-free high-frequency (>50%) targeted integration was achieved. This approach has the potential to improve the therapeutic efficacy of cell-based therapies and broaden the use of targeted integration as a research tool.

Published
2024

3. Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection

Author

Abel, Laurent, Aiuti, Alessandro, Al-Muhsen, Saleh, Al-Mulla, Fahd, Amara, Ali, Anderson, Mark S., Andreakos, Evangelos, Arias, Andrés A., Arkin, Lisa M., Feldman, Hagit Baris, Bastard, Paul, Belot, Alexandre, Biggs, Catherine M., Bogunovic, Dusan, Bolze, Alexandre, Bondarenko, Anastasiia, Borghesi, Alessandro, Bousfiha, Ahmed A., Brodin, Petter, Bryceson, Yenan, Butte, Manish J., Casanova, Jean-Laurent, Casari, Giorgio, Christodoulou, John, Cobat, Aurélie, Colobran, Roger, Condino-Neto, Antonio, Constantinescu, Stefan N., Cooper, Megan A., Dalgard, Clifton L., Desai, Murkesh, Drolet, Beth A., Duval, Xavier, El Baghdadi, Jamila, Eloy, Philippine, Espinosa-Padilla, Sara, Fellay, Jacques, Flores, Carlos, Franco, José Luis, Froidure, Antoine, Gorochov, Guy, Gregersen, Peter K., Grimbacher, Bodo, Haerynck, Filomeen, Hagin, David, Halwani, Rabih, Hammarström, Lennart, Heath, James R., Hsieh, Elena W.Y., Husebye, Eystein, Imai, Kohsuke, Itan, Yuval, Jouanguy, Emmanuelle, Kaja, Elżbieta, Karamitros, Timokratis, Kisand, Kai, Ku, Cheng-Lung, Lau, Yu-Lung, Ling, Yun, Lucas, Carrie L., Maniatis, Tom, Mansouri, Davood, Maródi, László, Mentré, France, Meyts, Isabelle, Milner, Joshua D., Mironska, Kristina, Mogensen, Trine H., Morio, Tomohiro, Ng, Lisa F.P., Notarangelo, Luigi D., Novelli, Antonio, Novelli, Giuseppe, O'Farrelly, Cliona, Okada, Satoshi, Okamoto, Keisuke, Ozcelik, Tayfun, Pan-Hammarström, Qiang, Pape, Jean W., Perez de Diego, Rebeca, Perez-Tur, Jordi, Perlin, David S., Pesole, Graziano, Planas, Anna M., Prando, Carolina, Pujol, Aurora, Puel, Anne, Quintana-Murci, Lluis, Ramaswamy, Sathishkumar, Renia, Laurent, Resnick, Igor, Rodríguez-Gallego, Carlos, Sancho-Shimizu, Vanessa, Sediva, Anna, Seppänen, Mikko R.J., Shahrooei, Mohammad, Shcherbina, Anna, Slaby, Ondrej, Snow, Andrew L., Soler-Palacín, Pere, Soumelis, Vassili, Spaan, András N., Tancevski, Ivan, Tangye, Stuart G., Tayoun, Ahmad Abou, Temel, Şehime Gülsün, Thorball, Christian, Tiberghien, Pierre, Trouillet-Assant, Sophie, Turvey, Stuart E., Uddin, K. M. Furkan, Uddin, Mohammed J., van de Beek, Diederik, Vinh, Donald C., von Bernuth, Horst, Wauters, Joost, Zatz, Mayana, Zawadzki, Pawel, Zhang, Qian, Zhang, Shen-Ying, Bureau, Serge, Vacher, Yannick, Gysembergh-Houal, Anne, Demerville, Lauren, Benleulmi-Chaachoua, Abla, Abad, Sebastien, Abassi, Radhiya, Abdellaoui, Abdelrafie, Abdelmalek, Abdelkrim, Abdoul, Hendy, Abergel, Helene, Abeud, Fariza, Abgrall, Sophie, Abisror, Noemie, Adechian, Marylise, Aderdour, Nordine, Admane, Hakeem Farid, Adnet, Frederic, Afritt, Sara, Agostini, Helene, Aguilar, Claire, Agut, Sophie, Aiello, Tommaso Francesco, Kaci, Marc Ait, Oufella, Hafid Ait, Ajeenthiravasan, Gokula, Alauzy, Virginie, Alby-Laurent, Fanny, Allard, Lucie, Alyanakian, Marie-Alexandra, Borrero, Blanca Amador, Amam, Sabrina, Amrouche, Lucile, Andronikof, Marc, Anglicheau, Dany, Anguel, Nadia, Annane, Djillali, Aounzou, Mohammed, Aparicio, Caroline, Aratus, Gladys, Arlet, Jean-Benoit, Arzoine, Jeremy, Aslangul, Elisabeth, Assefi, Mona, Aubry, Adeline, Audiffred, Laetitia, Audureau, Etienne, Auger, Christelle Nathalie, Auregan, Jean-Charles, Awotar, Celine, Milla, Sonia Ayllon, Azan, Delphine, Azemar, Laurene, Azzouguen, Billal, Elrufaai, Marwa Bachir, Badsi, Aïda, Bakouboula, Prissile, Balcerowiak, Coline, Balde, Fanta, Baldivia, Elodie, Bangamingo, Eliane-Flore, Baptiste, Amandine, Baran-Marszak, Fanny, Barau, Caroline, Barget, Nathalie, Baronnet, Flore, Barthelemy, Romain, Baudel, Jean-Luc, Baudry, Camille, Baudry, Elodie, Beaugerie, Laurent, Belamri, Adel, Belaube, Nicolas, Belilita, Rhida, Bellassen, Pierre, Belmokhtar, Rawan, Beltran, Isabel, Benainous, Ruben, Benallaoua, Mourad, Benamouzig, Robert, Benbara, Amélie, Benhida, Jaouad, Benkhelouf, Anis, Benlagha, Jihene, Benmostafa, Chahinez, Benothmane, Skander, Bentifraouine, Miassa, Berard, Laurence, Bernier, Quentin, Berti, Enora, Bertier, Astrid, Berton, Laure, Bessis, Simon, Beurton, Alexandra, Bianco, Celine, Bianquis, Clara, Bidar, Frank, Blanche, Philippe, Blayau, Clarisse, Bleibtreu, Alexandre, Blin, Emmanuelle, Bloch-Queyrat, Coralie, Boissier, Marie-Christophe, Bollens, Diane, Bolzoni, Marion, Bompard, Rudy pierre, Bonnet, Nicolas, Bonnouvrier, Justine, Botha, Shirmonecrystal, Boucenna, Wissam, Bouchama, Fatiha, Bouchaud, Olivier, Bouchghoul, Hanane, Boudjebla, Taoueslylia, Boudjema, Noel, Bouffard, Catherine, Bougle, Adrien, Bouguerra, Meriem, Bouras, Leila, Bourcier, Agnes, Durand, Anne Bourgarit, Bourrier, Anne, Bouscarat, Fabrice, Bouvry, Diane, Bouziri, Nesrine, Bouzrara, Ons, Bribier, Sarah, Brugier, Delphine, Brunel, Melanie, Bui, Eida, Buisson, Anne, Bukreyeva, Iryna, Bureau, Côme, Cadranel, Jacques, Cailhol, Johann, Calin, Ruxandra, Vega, Clara Campos, Canavaggio, Pauline, Cancella, Marta, Cantin, Delphine, Cao, Albert, Carbillon, Lionel, Carlier, Nicolas, Cassard, Clementine, Castor, Guylaine, Cauchy, Marion, Cha, Olivier, Chaigne, Benjamin, Challal, Salima, Champion, Karine, Chariot, Patrick, Chas, Julie, Chauveau, Simon, Chauvin, Anthony, Chauvin, Clement, Chavarot, Nathalie, Chebbout, Kamélia, Cherai, Mustapha, Cherubini, Ilaria, Chevalier, Amelie, Chiarabini, Thibault, Chinet, Thierry, Chocron, Richard, Choinier, Pascaline, Chommeloux, Juliette, Choquet, Christophe, Choupeaux, Laure, Chousterman, Benjamin, Ciocan, Dragosmarius, Clarke, Ada, Clavere, Gaëlle, Clavier, Florian, Clement, Karine, Clerc, Sebastien, Cohen, Yves, Cohen, Fleur, Cohen, Adrien, Coilly, Audrey, Colboc, Hester, Colin, Pauline, Collet, Magalie, Comarmond, Chloé, Combacon, Emeline, Combes, Alain, Comparon, Celine, Constantin, Jean-Michel, Cordel, Hugues, Cordier, Anne-Gael, Costantini, Adrien, Chalumeau, Nathalie Costedoat, Couffignal, Camille, Coupeau, Doriane, Creange, Alain, Lamarre, Yannie Cuvillier, Da Silveira, Charlène, Guibal El Kayani, Sandrine Dautheville, De Castro, Nathalie, De Rycke, Yann, Del Pozo, Lucie, Delannoy, Quentin, Delay, Mathieu, Deleris, Robin, Delforge, Juliette, Delphine, Laëtitia, Demare, Noemie, Demeret, Sophie, Demoule, Alexandre, Deniau, Aurore, Depret, François, Derolez, Sophie, Derradji, Ouda, Derridj, Nawal, Descamps, Vincent, Deschamps, Lydia, Desconclois, Celine, Desnos, Cyrielle, Desongins, Karine, Dhote, Robin, Diallo, Benjamin, Didier, Morgane, Diemer, Myriam, Diez, Stephane, Djadi-Prat, Juliette, Djamouri Monnory, Fatima-Zohra, Djebara, Siham, Djebra, Naoual, Djietcheu, Minette, Djillali, Hadjer, Djouadi, Nouara, Donneger, Severine, Santos, Catarina Dos, Dournon, Nathalie, Dres, Martin, Droctove, Laura, Drogrey, Marie, Dropy, Margot, Drouet, Elodie, Dubosq, Valérie, Dubreucq, Evelyne, Dubus, Estelle, Duchemann, Boris, Duchenoy, Thibault, Dudoignon, Emmanuel, Dufau, Romain, Dumas, Florence, Duran, Clara, Duron, Emmanuelle, Durrbach, Antoine, Duvivier, Claudine, Ebstein, Nathan, El Khalifa, Jihane, Elabbadi, Alexandre, Elie, Caroline, Ernotte, Gabriel, Esling, Anne, Etienne, Martin, Eyer, Xavier, Fartoukh, Muriel Sarah, Fayali, Takoua, Fermaut, Marion, Fiorentino, Arianna, Fliss, Souha, Fournier, Marie-Céline, Fournier, Benjamin, Francois, Hélène, Freynet, Olivia, Frigout, Yvann, Fromont, Isaure, Fuentes, Axelle, Furet, Thomas, Galand, Joris, Garnier, Marc, Gaubert, Agnes, Gaudry, Stéphane, Gaugain, Samuel, Gauthier, Damien, Gautier, Maxime, Georgin-Lavialle, Sophie, Geromin, Daniela, Ghalayini, Mohamed, Ghaleh, Bijan, Ghezal, Myriam, Gibelin, Aude, Gimeno, Linda, Girard, Benoit, Leprieur, Bénédicte Giroux, Gomes, Doryan, Gomes-Pires, Elisabete, Gouge, Anne, Gouja, Amel, Goulet, Helene, Goupil, Sylvain, De Bouille, Jeanne Goupil, Gras, Julien, Greffe, Segolene, Grimaldi, Lamiae, Guedeney, Paul, Guidet, Bertrand, Guillo, Matthias, Gulczynski, Mariechristelle, Hadjam, Tassadit, Haguenauer, Didier, Hammal, Soumeya, Hammoudi, Nadjib, Hanon, Olivier, Harrois, Anarole, Hausfater, Pierre, Hautem, Coraline, Hekimian, Guillaume, Heming, Nicholas, Hermine, Olivier, Ho, Sylvie, Houllier, Marie, Huot, Benjamin, Huscenot, Tessa, Saied, Wafa Ibn, Ikherbane, Ghilas, Imarazene, Meriem, Ingiliz, Patrick, Iratni, Lina, Jaureguiberry, Stephane, Jean-Marc, Jean-Francois, Jeyarajasingham, Deleena, Jouany, Pauline, Jouis, Veronique, Jourdaine, Clement, Kafif, Ouifiya, Kallala, Rim, Katsahian, Sandrine, Kelesyan, Lilit, Keo, Vixra, Ketz, Flora, Khamis, Warda, Khelili, Enfel, Khellaf, Mehdi, Kotokpo Youkou, Christy Gaëlla, Kounis, Ilias, Kpalma, Gaelle, Krause, Jessica, Labbe, Vincent, Lacombe, Karine, Lacorte, Jean-Marc, Lafont, Anne Gaelle, Lafont, Emmanuel, Lagha, Lynda, Lamhaut, Lionel, Lancelot, Aymeric, Landman, Cecilia, Lanternier, Fanny, Larcheveque, Cecile, Combe, Caroline Lascoux, Lassel, Ludovic, Laverdant, Benjamin, Lavergne, Christophe, Lavillegrand, Jean-Rémi, Lazureanu, Pompilia, Le Guennec, Loïc, Leberre, Lamia, Leblanc, Claire, Leboyer, Marion, Lecomte, Francois, Lecorre, Marine, Leenhardt, Romain, Lefebvre, Marylou, Lefebvre, Bénédicte, Legendre, Paul, Leger, Anne, Legros, Laurence, Legrosse, Justyna, Lehuunghia, Sébastien, Lemarec, Julien, Leporrier-Ext, Jeremie, Lesein, Manon, Lesur, Hubert, Levy, Vincent, Levy, Albert, Lopes, Edwige, Lopes, Amanda, Lopez, Vanessa, Lopinto, Julien, Lortholary, Olivier, Louadah, Badr, Loze, Bénédicte, Lucas, Marie-Laure, Lucasamichi, Axelle, Luong, Liem Binh, Magazimama-Ext, Arouna, Maingret, David, Mameri, Lakhdar, Manivet, Philippe, Mansouri, Cylia, Marcault, Estelle, Marey, Jonathan, Marin, Nathalie, Marois, Clémence, Martin, Olivier, Martineau, Lou, Martinez-Lopez, Cannelle, Martyniuck, Pierre, De Farcy, Pauline Mary, Marzouk, Nessrine, Masmoudi, Rafik, Mebazaa, Alexandre, Mechai, Frédéric, Mecozzi, Fabio, Mediouni, Chamseddine, Megarbane, Bruno, Meghadecha, Mohamed, Mejean, Élodie, Mekinian, Arsene, Abdelhadi, Nour Mekki, Mekni, Rania, Meliti, Thinhinan Sabrina, Lima, Breno Melo, Meng, Paris, Merbah, Soraya, Messani, Fadhila, Messaoudi, Yasmine, Mewasing, Baboo-Irwinsingh, Meziane, Lydia, Michelot-Burger, Carole, Mignot, Françoise, Minka, Fadi Hillary, Miyara, Makoto, Moine, Pierre, Molina, Jean-Michel, Montegnies-Boulet, Anaïs, Monti, Alexandra, Montlahuc, Claire, Montout, Anne-Lise, Moores, Alexandre, Morbieu, Caroline, Mortelette, Helene, Mouly, Stéphane, Muzaffar, Rosita, Nacerddine, Cherifa Iness, Nadal, Marine, Nadif, Hajer, Nassarmadji, Kladoum, Natella, Pierre, Ndingamondze, Sandrine, Neraal, Stefan, Nguyen, Caroline, N'Guyen, Bao, Larmurier, Isabelle Nion, Nlomenyengue, Luc, Noel, Nicolas, Nunes, Hilario, Omar, Edris, Ouazene, Zineb, Ouedraogo, Elise, Ouelaa, Wassila, Oukhedouma, Anissa, Amara, Yasmina Ould, Oya, Herve, Oziel, Johanna, Padilla, Thomas, Paillaud, Elena, Paiva, Solenne, Parfait, Beatrice, Parize, Perrine, Parizot, Christophe, Parrot, Antoine, Pavot, Arthur, Peaudecerf, Laetitia, Pene, Frédéric, Pepin, Marion, Pernet, Julie, Pernin, Claire, Petit, Mylène, Peyrony, Olivier, Pietri, Marie-Pierre, Pietri, Olivia, De Chambrun, Marc Pineton, Pinson, Michelle, Pintado, Claire, Piquard, Valentine, Pires, Christine, Planquette, Benjamin, Poirier, Sandrine, Pomel, Anne-Laure, Pons, Stéphanie, Ponscarme, Diane, Pourcelot, Annegaelle, Pourcher, Valérie, Pouvaret, Anne, Prever, Florian, Previlon, Miresta, Prevost, Margot, Provoost, Marie-Julie, Quemeneur, Cyril, Rafat, Cédric, Rami, Agathe, Ranque, Brigitte, Raphael, Maurice, Raphalen, Jean Herle, Rastoin, Anna, Raux, Mathieu, Rebai, Amani, Reby, Michael, Regent, Alexis, Regrag, Asma, Resche-Rigon, Matthieu, Ressaire, Quentin, Richard, Christian, Richard, Mariecaroline, Robert, Maxence, Rohaut, Benjamin, Rolland-Debord, Camille, Ropers, Jacques, Roque-Afonso, Anne-Marie, Rosso, Charlotte, Rousseaux, Mélanie, Rousseaux, Nabila, Roux, Swasti, Roux, Lorène, Rouzaud, Claire, Rozes, Antoine, Rubenstein, Emma, Sabate, Jean-Marc, Sabet, Sheila, Sacleux, Sophie-Caroline, Kermanach, Nathalie Saidenberg, Saliba, Faouzi, Salmon, Dominique, Savale, Laurent, Savary, Guillaume, Sberro, Rebecca, Scemla, Anne, Schlemmer, Frederic, Schwartz, Mathieu, Sedfi, Saïd, Sefir-Kribel, Samia, Seksik, Philippe, Sellier, Pierre, Selves, Agathe, Sembach, Nicole, Semerano, Luca, Senat, Marie-Victoire, Sene, Damien, Serris, Alexandra, Sese, Lucile, Sghiouar, Naima, Sigaux, Johanna, Siguier, Martin, Silvain, Johanne, Simon, Noémie, Simon, Tabassome, Skandri, Lina Innes, Slimani, Miassa, Snauwaert, Aurélie, Sokol, Harry, Soliman, Heithem, Soltani, Nisrine, Soyer, Benjamin, Steg, Gabriel, Suarez, Lydia, Szwebel, Tali-Anne, Taffame, Kossi, Tandjaoui-Lambiotte, Yacine, Tantet, Claire, Tateo, Mariagrazia, Theodose, Igor, Thiebaud, Pierre clement, Thomas, Caroline, Tiercelet, Kelly, Tisserand, Julie, Tomczak, Carole, Torelino, Krystel, Touam-Ext, Fatima, Toumi, Lilia, Toury, Gustave, Toy-Miou, Mireille, Dinh Thanh Lien, Olivia Tran, Trandinh, Alexy, Treluyer, Jean-Marc, Trinque, Baptiste, Truchot, Jennifer, Tubach, Florence, Tubiana, Sarah, Tunesi, Simone, Turpin, Matthieu, Turpin, Agathe, Urbina, Tomas, Narvaez, Rafael Usubillaga, Uzunhan, Yurdagul, Vaittinadaayar, Prabakar, Valent, Arnaud, Valentian, Maelle, Valin, Nadia, Vallet, Hélène, Vaz, Marina, Vazquezibarra, Miguel-Alejandro, Vedie, Benoit, Velly, Laetitia, Verstuyft, Celine, Viallette, Cedric, Vicaut, Eric, Vignes, Dorothee, Vimpere, Damien, Virlouvet, Myriam, Voiriot, Guillaume, Voisot, Lena, Weiss, Emmanuel, Weiss, Nicolas, Winchenne, Anaïs, Yordanov, Youri, Zafrani, Lara, Zaidan, Mohamad, Zaidi, Wissem, Zak, Cathia, Zarhrate-Ghoul, Aida, Zatout, Ouassila, Zeino, Suzanne, Zeitouni, Michel, Zemirli, Naïma, Zerah, Lorene, Zia, Ounsa, Ziol, Marianne, Zolario, Oceane, Zuber, Julien, Andrejak, Claire, Angoulvant, François, Bachelet, Delphine, Bartoli, Marie, Basmaci, Romain, Behillil, Sylvie, Beluze, Marine, Benkerrou, Dehbia, Bhavsar, Krishna, Bouadma, Lila, Bouchez, Sabelline, Bouscambert, Maude, Cervantes-Gonzalez, Minerva, Chair, Anissa, Chirouze, Catherine, Coelho, Alexandra, Couffin-Cadiergues, Sandrine, d’Ortenzio, Eric, Debray, Marie-Pierre, Deconinck, Laurene, Deplanque, Dominique, Descamps, Diane, Desvallée, Mathilde, Diallo, Alpha, Diouf, Alphonsine, Dorival, Céline, Dubos, François, Elharrar, Brigitte, Enouf, Vincent, Esperou, Hélène, Esposito-Farese, Marina, Etienne, Manuel, Devouge, Eglantine Ferrand, Gault, Nathalie, Gaymard, Alexandre, Ghosn, Jade, Gigante, Tristan, Gilg, Morgane, Guedj, Jérémie, Hoctin, Alexandre, Hoffmann, Isabelle, Houas, Ikram, Hulot, Jean-Sébastien, Jaafoura, Salma, Kaguelidou, Florentia, Kali, Sabrina, Khalil, Antoine, Khan, Coralie, Laouénan, Cédric, Laribi, Samira, Le, Minh, Le Hingrat, Quentin, Le Mestre, Soizic, Le Nagard, Hervé, Lescure, François-Xavier, Letrou, Sophie, Levy, Yves, Lina, Bruno, Lingas, Guillaume, Lucet, Jean-Christophe, Malvy, Denis, Mambert, Marina, Meziane, Amina, Mouquet, Hugo, Mullaert, Jimmy, Neant, Nadège, Nguyen, Duc, Noret, Marion, Nseir, Saad, Papadopoulos, Aurélie, Paul, Christelle, Peiffer-Smadja, Nathan, Perpoint, Thomas, Petrov-Sanchez, Ventzislava, Peytavin, Gilles, Pham, Huong, Picone, Olivier, Puéchal, Oriane, Rabaud, Christian, Rosa-Calatrava, Manuel, Rossignol, Bénédicte, Rossignol, Patrick, Roy, Carine, Schneider, Marion, Su, Richa, Tardivon, Coralie, Tellier, Marie-Capucine, Téoulé, François, Terrier, Olivier, Timsit, Jean-François, Tual, Christelle, Van Der Werf, Sylvie, Vanel, Noémie, Veislinger, Aurélie, Visseaux, Benoit, Wiedemann, Aurélie, Yazdanpanah, Yazdan, Alavoine, Loubna, Burdet, Charles, Charpentier, Charlotte, Dechanet, Aline, Ecobichon, Jean-Luc, Frezouls, Wahiba, Houhou, Nadhira, Lehacaut, Jonathan, Manchon, Pauline, Nouroudine, Mariama, Quintin, Caroline, Thy, Michael, van der Werf, Sylvie, Vignali, Valérie, Chahine, Abir, Waucquier, Nawal, Migaud, Maria-Claire, Djossou, Félix, Mergeay-Fabre, Mayka, Lucarelli, Aude, Demar, Magalie, Bruneau, Léa, Gérardin, Patrick, Maillot, Adrien, Payet, Christine, Laviolle, Bruno, Laine, Fabrice, Paris, Christophe, Desille-Dugast, Mireille, Fouchard, Julie, Pistone, Thierry, Perreau, Pauline, Gissot, Valérie, Goas, Carole L.E., Montagne, Samatha, Richard, Lucie, Bouiller, Kévin, Desmarets, Maxime, Meunier, Alexandre, Bourgeon, Marilou, Lefévre, Benjamin, Jeulin, Hélène, Legrand, Karine, Lomazzi, Sandra, Tardy, Bernard, Gagneux-Brunon, Amandine, Bertholon, Frédérique, Botelho-Nevers, Elisabeth, Kouakam, Christelle, Nicolas, Leturque, Roufai, Layidé, Amat, Karine, Espérou, Hélène, Hendou, Samia, Foti, Giuseppe, Citerio, Giuseppe, Contro, Ernesto, Pesci, Alberto, Valsecchi, Maria Grazia, Cazzaniga, Marina, Bellani, Giacomo, Abad, Jorge, Accordino, Giulia, Angelini, Micol, Aguilera-Albesa, Sergio, Aguiló-Cucurull, Aina, Özkan, Esra Akyüz, Darazam, Ilad Alavi, Roblero Albisures, Jonathan Antonio, Aldave, Juan C., Ramos, Miquel Alfonso, Khan, Taj Ali, Aliberti, Anna, Nadji, Seyed Alireza, Alkan, Gulsum, AlKhater, Suzan A., Allardet-Servent, Jerome, Allende, Luis M., Alonso-Arias, Rebeca, Alshahrani, Mohammed S., Alsina, Laia, Amoura, Zahir, Antolí, Arnau, Arrestier, Romain, Aubart, Mélodie, Auguet, Teresa, Avramenko, Iryna, Aytekin, Gökhan, Azot, Axelle, Bahram, Seiamak, Bajolle, Fanny, Baldanti, Fausto, Baldolli, Aurélie, Ballester, Maite, Barrou, Benoit, Barzaghi, Federica, Basso, Sabrina, Bayhan, Gulsum Iclal, Bezrodnik, Liliana, Bilbao, Agurtzane, Blanchard-Rohner, Geraldine, Blanco, Ignacio, Blandinières, Adeline, Blázquez-Gamero, Daniel, Bloomfield, Marketa, Bolivar-Prados, Mireia, Borie, Raphael, Botdhlo-Nevers, Elisabeth, Bousquet, Aurore, Boutolleau, David, Bouvattier, Claire, Boyarchuk, Oksana, Bravais, Juliette, Briones, M. Luisa, Brunner, Marie-Eve, Bruno, Raffaele, Bueno, Maria Rita P., Bukhari, Huda, Bustamante, Jacinta, Cáceres Agra, Juan José, Capra, Ruggero, Carapito, Raphael, Carrabba, Maria, Casasnovas, Carlos, Caseris, Marion, Cassaniti, Irene, Castelle, Martin, Castelli, Francesco, Castillo de Vera, Martín, Castro, Mateus V., Catherinot, Emilie, Celik, Jale Bengi, Ceschi, Alessandro, Chalumeau, Martin, Charbit, Bruno, Boulanger, Cécile, Clavé, Père, Clotet, Bonaventura, Codina, Anna, Comarmond, Cloé, Comoli, Patrizia, Corsico, Angelo G., Coşkuner, Taner, Cvetkovski, Aleksandar, Cyrus, Cyril, Dalmau, David, Danion, François, Darley, David Ross, Das, Vincent, Dauby, Nicolas, Dauger, Stéphane, De Munte, Paul, de Pontual, Loic, Dehban, Amin, Delplancq, Geoffroy, Desguerre, Isabelle, Di Sabatino, Antonio, Diehl, Jean-Luc, Dobbelaere, Stephanie, Domínguez-Garrido, Elena, Dubost, Clément, Ekwall, Olov, Bozdemir, Şefika Elmas, Elnagdy, Marwa H., Emiroglu, Melike, Endo, Akifumi, Erdeniz, Emine Hafize, Aytekin, Selma Erol, Etxart Lasa, Maria Pilar, Euvrard, Romain, Fabio, Giovanna, Faivre, Laurence, Falck, Antonin, Fartoukh, Muriel, Faure, Morgane, Arquero, Miguel Fernandez, Ferrer, Ricard, Ferreres, Jose, Francois, Bruno, Fumadó, Victoria, Fung, Kitty S.C., Fusco, Francesca, Gagro, Alenka, Solis, Blanca Garcia, Garçon, Pierre, Gaussem, Pascale, Gayretli, Zeynep, Gil-Herrera, Juana, Gilardin, Laurent, Gatineau, Audrey Giraud, Girona-Alarcón, Mònica, Cifuentes Godínez, Karen Alejandra, Goffard, Jean-Christophe, Gonzales, Nacho, Gonzalez-Granado, Luis I., González-Montelongo, Rafaela, Guerder, Antoine, Gülhan, Belgin, Gumucio, Victor Daniel, Hanitsch, Leif Gunnar, Gunst, Jan, Gut, Marta, Hadjadj, Jérôme, Hancerli, Selda, Hariyan, Tetyana, Hatipoglu, Nevin, Heppekcan, Deniz, Hernandez-Brito, Elisa, Ho, Po-ki, Holanda-Peña, María Soledad, Horcajada, Juan P., Hraiech, Sami, Humbert, Linda, Hung, Ivan F.N., Iglesias, Alejandro D., Íñigo-Campos, Antonio, Jamme, Matthieu, Arranz, María Jesús, Jimeno, Marie-Thérèse, Jordan, Iolanda, Kanık-Yüksek, Saliha, Kara, Yalcin, Karahan, Aydın, Karbuz, Adem, Yasar, Kadriye Kart, Kasapcopur, Ozgur, Kashimada, Kenichi, Keles, Sevgi, Demirkol, Yasemin Kendir, Kido, Yasutoshi, Kizil, Can, Kılıç, Ahmet Osman, Klocperk, Adam, Koutsoukou, Antonia, Król, Zbigniew J., Ksouri, Hatem, Kuentz, Paul, Kwan, Arthur M.C., Kwan, Yat Wah M., Kwok, Janette S.Y., Lagier, Jean-Christophe, Lam, David S.Y., Lampropoulou, Vicky, Le Bourgeois, Fleur, Leo, Yee-Sin, Lopez, Rafael Leon, Leung, Daniel, Levin, Michael, Levy, Michael, Lévy, Romain, Li, Zhi, Lilleri, Daniele, Adrian Bolanos Lima, Edson Jose, Linglart, Agnes, López-Collazo, Eduardo, Lorenzo-Salazar, José M., Louapre, Céline, Lubetzki, Catherine, Lung, Kwok-Cheung, Luyt, Charles-Edouard, Lye, David C., Magnone, Cinthia, Marchioni, Enrico, Marioli, Carola, Marjani, Majid, Marques, Laura, Pereira, Jesus Marquez, Martín-Nalda, Andrea, Pueyo, David Martínez, Martinez-Picado, Javier, Marzana, Iciar, Mata-Martínez, Carmen, Mathian, Alexis, Matos, Larissa R.B., Matthews, Gail V., Mayaux, Julien, McLaughlin-Garcia, Raquel, Meersseman, Philippe, Mège, Jean-Louis, Mekontso-Dessap, Armand, Melki, Isabelle, Meloni, Federica, Meritet, Jean-François, Merlani, Paolo, Akcan, Özge Metin, Mezidi, Mehdi, Migeotte, Isabelle, Millereux, Maude, Million, Matthieu, Mirault, Tristan, Mircher, Clotilde, Mirsaeidi, Mehdi, Mizoguchi, Yoko, Modi, Bhavi P., Mojoli, Francesco, Moncomble, Elsa, Melián, Abián Montesdeoca, Martinez, Antonio Morales, Morandeira, Francisco, Morange, Pierre-Emmanuel, Mordacq, Clémence, Morelle, Guillaume, Mouly, Stéphane J., Muñoz-Barrera, Adrián, Nafati, Cyril, Nagashima, Shintaro, Nakagama, Yu, Neven, Bénédicte, Neves, João Farela, Ng, Yuk-Yung, Hubert Nielly, Medina, Yeray Novoa, Cuadros, Esmeralda Nuñez, Karabela, Semsi Nur, Ocejo-Vinyals, J. Gonzalo, Oualha, Mehdi, Ouedrani, Amani, Özçelik, Tayfun, Ozkaya-Parlakay, Aslinur, Pagani, Michele, Papadaki, Maria, Parola, Philippe, Pascreau, Tiffany, Paul, Stéphane, Paz-Artal, Estela, Pedraza, Sigifredo, González Pellecer, Nancy Carolina, Pellegrini, Silvia, Pérez de Diego, Rebeca, Pérez-Fernández, Xosé Luis, Philippe, Aurélien, Philippot, Quentin, Picod, Adrien, Pineton de Chambrun, Marc, Piralla, Antonio, Planas-Serra, Laura, Ploin, Dominique, Poissy, Julien, Poncelet, Géraldine, Poulakou, Garyphallia, Pouletty, Marie S., Pourshahnazari, Persia, Qiu-Chen, Jia Li, Quentric, Paul, Rambaud, Thomas, Raoult, Didier, Raoult, Violette, Rebillat, Anne-Sophie, Redin, Claire, Resmini, Léa, Ricart, Pilar, Richard, Jean-Christophe, Rigo-Bonnin, Raúl, Rivet, Nadia, Rivière, Jacques G., Rocamora-Blanch, Gemma, Rodero, Mathieu P., Rodrigo, Carlos, Rodriguez, Luis Antonio, Rodriguez-Gallego, Carlos, Rodriguez-Palmero, Agustí, Romero, Carolina Soledad, Rothenbuhler, Anya, Roux, Damien, Rovina, Nikoletta, Rozenberg, Flore, Ruch, Yvon, Ruiz, Montse, Ruiz del Prado, Maria Yolanda, Ruiz-Rodriguez, Juan Carlos, Sabater-Riera, Joan, Saks, Kai, Salagianni, Maria, Sanchez, Oliver, Sánchez-Montalvá, Adrián, Sánchez-Ramón, Silvia, Schidlowski, Laire, Schluter, Agatha, Schmidt, Julien, Schmidt, Matthieu, Schuetz, Catharina, Schweitzer, Cyril E., Scolari, Francesco, Seijo, Luis, Seminario, Analia Gisela, Seng, Piseth, Senoglu, Sevtap, Seppänen, Mikko, Llovich, Alex Serra, Siguret, Virginie, Siouti, Eleni, Smadja, David M., Smith, Nikaia, Sobh, Ali, Solanich, Xavier, Solé-Violán, Jordi, Soler, Catherine, Sözeri, Betül, Stella, Giulia Maria, Stepanovskiy, Yuriy, Stoclin, Annabelle, Taccone, Fabio, Taupin, Jean-Luc, Tavernier, Simon J., Tello, Loreto Vidaur, Terrier, Benjamin, Thiery, Guillaume, Thorn, Karolina, Thumerelle, Caroline, Tipu, Imran, Tolstrup, Martin, Tomasoni, Gabriele, Toubiana, Julie, Alvarez, Josep Trenado, Triantafyllia, Vasiliki, Troya, Jesús, Tsang, Owen T.Y., Tserel, Liina, Tso, Eugene Y.K., Tucci, Alessandra, Tüter Öz, Şadiye Kübra, Ursini, Matilde Valeria, Utsumi, Takanori, Vabres, Pierre, Valencia-Ramos, Juan, Van Den Rym, Ana Maria, Vandernoot, Isabelle, Velez-Santamaria, Valentina, Zuniga Veliz, Silvia Patricia, Vidigal, Mateus C., Viel, Sébastien, Villain, Cédric, Vilaire-Meunier, Marie E., Villar-García, Judit, Vincent, Audrey, Van der Linden, Dimitri, Volokha, Alla, Vuotto, Fanny, Wauters, Els, Wu, Alan K.L., Wu, Tak-Chiu, Yahşi, Aysun, Yesilbas, Osman, Yildiz, Mehmet, Young, Barnaby E., Yükselmiş, Ufuk, Zecca, Marco, Zuccaro, Valentina, Van Praet, Jens, Lambrecht, Bart N., Van Braeckel, Eva, Bosteels, Cédric, Hoste, Levi, Hoste, Eric, Bauters, Fré, De Clercq, Jozefien, Heijmans, Catherine, Slabbynck, Hans, Naesens, Leslie, Florkin, Benoit, Young, Mary-Anne, Willis, Amanda, Lapuente-Suanzes, Paloma, de Andrés-Martín, Ana, Berkell, Matilda, Carelli, Valerio, Fiorentino, Alessia, Malhotra, Surbhi, Mattiaccio, Alessandro, Pippucci, Tommaso, Seri, Marco, Tacconelli, Evelina, van Agtmael, Michiel, Algera, Anne Geke, Appelman, Brent, van Baarle, Frank, Bax, Diane, Beudel, Martijn, Bogaard, Harm Jan, Bomers, Marije, Bonta, Peter, Bos, Lieuwe, Botta, Michela, de Brabander, Justin, de Bree, Godelieve, de Bruin, Sanne, Buis, David T.P., Bugiani, Marianna, Bulle, Esther, Chouchane, Osoul, Cloherty, Alex, Dijkstra, Mirjam, Dongelmans, Dave A., Dujardin, Romein W.G., Elbers, Paul, Fleuren, Lucas, Geerlings, Suzanne, Geijtenbeek, Theo, Girbes, Armand, Goorhuis, Bram, Grobusch, Martin P., Hafkamp, Florianne, Hagens, Laura, Hamann, Jorg, Harris, Vanessa, Hemke, Robert, Hermans, Sabine M., Heunks, Leo, Hollmann, Markus, Horn, Janneke, Hovius, Joppe W., de Jong, Menno D., Koning, Rutger, Lim, Endry H.T., van Mourik, Niels, Nellen, Jeaninne, Nossent, Esther J., Paulus, Frederique, Peters, Edgar, Pina-Fuentes, Dan A.I., van der Poll, Tom, Preckel, Bennedikt, Prins, Jan M., Raasveld, Jorinde, Reijnders, Tom, de Rotte, Maurits C.F. J., Schinkel, Michiel, Schultz, Marcus J., Schrauwen, Femke A.P., Schuurmans, Alex, Schuurmans, Jaap, Sigaloff, Kim, Slim, Marleen A., Smeele, Patrick, Smit, Marry, Stijnis, Cornelis S., Stilma, Willemke, Teunissen, Charlotte, Thoral, Patrick, Tsonas, Anissa M., Tuinman, Pieter R., van der Valk, Marc, Veelo, Denise P., Volleman, Carolien, de Vries, Heder, Vught, Lonneke A., van Vugt, Michèle, Wouters, Dorien, Zwinderman, A.H., Brouwer, Matthijs C., Wiersinga, W. Joost, Vlaar, Alexander P.J., Tompkins, Miranda F., Alba, Camille, Hupalo, Daniel N., Rosenberger, John, Sukumar, Gauthaman, Wilkerson, Matthew D., Zhang, Xijun, Lack, Justin, Oler, Andrew J., Dobbs, Kerry, Delmonte, Ottavia M., Danielson, Jeffrey J., Biondi, Andrea, Bettini, Laura Rachele, D’Angiò, Mariella, Beretta, Ilaria, Imberti, Luisa, Sottini, Alessandra, Quaresima, Virginia, Quiros-Roldan, Eugenia, Rossi, Camillo, Castagnoli, Riccardo, Montagna, Daniela, Licari, Amelia, Marseglia, Gian Luigi, Marchal, Astrid, Cirulli, Elizabeth T., Neveux, Iva, Bellos, Evangelos, Thwaites, Ryan S., Schiabor Barrett, Kelly M., Zhang, Yu, Nemes-Bokun, Ivana, Kalinova, Mariya, Catchpole, Andrew, Lack, Justin B., Chiu, Christopher, and Grzymski, Joseph J.

Published
2024
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5. Genetically corrected RAG2-SCID human hematopoietic stem cells restore V(D)J-recombinase and rescue lymphoid deficiency

Author

Pavel-Dinu, Mara, Gardner, Cameron L., Nakauchi, Yusuke, Kawai, Tomoki, Delmonte, Ottavia M., Palterer, Boaz, Bosticardo, Marita, Pala, Francesca, Viel, Sebastien, Malech, Harry L., Ghanim, Hana Y., Bode, Nicole M., Kurgan, Gavin L., Detweiler, Angela M., Vakulskas, Christopher A., Neff, Norma F., Sheikali, Adam, Menezes, Sherah T., Chrobok, Jade, Hernández González, Elaine M., Majeti, Ravindra, Notarangelo, Luigi D., and Porteus, Matthew H.

Published
2024
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6. Successful treatment of JAK1-associated inflammatory disease

Author

Fayand, Antoine, Hentgen, Véronique, Posseme, Céline, Lacout, Carole, Picard, Capucine, Moguelet, Philippe, Cescato, Margaux, Sbeih, Nabiha, Moreau, Thomas R.J., Zhu, Yixiang Y.J., Charuel, Jean-Luc, Corneau, Aurélien, Deibener-Kaminsky, Joelle, Dupuy, Stéphanie, Fusaro, Mathieu, Hoareau, Benedicte, Hovnanian, Alain, Langlois, Vincent, Le Corre, Laurent, Maciel, Thiago T., Miskinyte, Snaigune, Miyara, Makoto, Moulinet, Thomas, Perret, Magali, Schuhmacher, Marie Hélène, Rignault-Bricard, Rachel, Viel, Sébastien, Vinit, Angélique, Soria, Angèle, Duffy, Darragh, Launay, Jean-Marie, Callebert, Jacques, Herbeuval, Jean Philippe, Rodero, Mathieu P., and Georgin-Lavialle, Sophie

Published
2023
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7. Early-onset autoimmunity associated with SOCS1 haploinsufficiency.

Author

Hadjadj, Jérôme, Castro, Carla Noemi, Tusseau, Maud, Stolzenberg, Marie-Claude, Mazerolles, Fabienne, Aladjidi, Nathalie, Armstrong, Martin, Ashrafian, Houman, Cutcutache, Ioana, Ebetsberger-Dachs, Georg, Elliott, Katherine S, Durieu, Isabelle, Fabien, Nicole, Fusaro, Mathieu, Heeg, Maximilian, Schmitt, Yohan, Bras, Marc, Knight, Julian C, Lega, Jean-Christophe, Lesca, Gaetan, Mathieu, Anne-Laure, Moreews, Marion, Moreira, Baptiste, Nosbaum, Audrey, Page, Matthew, Picard, Cécile, Ronan Leahy, T, Rouvet, Isabelle, Ryan, Ethel, Sanlaville, Damien, Schwarz, Klaus, Skelton, Andrew, Viallard, Jean-Francois, Viel, Sebastien, Villard, Marine, Callebaut, Isabelle, Picard, Capucine, Walzer, Thierry, Ehl, Stephan, Fischer, Alain, Neven, Bénédicte, Belot, Alexandre, and Rieux-Laucat, Frédéric

Subjects
T-Lymphocytes, Humans, Autoimmune Diseases, Cytokines, Pedigree, Age of Onset, Signal Transduction, Autoimmunity, Mutation, Models, Molecular, Adolescent, Adult, Child, Child, Preschool, Female, Male, STAT Transcription Factors, Haploinsufficiency, Suppressor of Cytokine Signaling 1 Protein, Human Genome, Rare Diseases, Clinical Research, Genetics, Autoimmune Disease, Aetiology, 2.1 Biological and endogenous factors, Inflammatory and immune system
Abstract

Autoimmunity can occur when a checkpoint of self-tolerance fails. The study of familial autoimmune diseases can reveal pathophysiological mechanisms involved in more common autoimmune diseases. Here, by whole-exome/genome sequencing we identify heterozygous, autosomal-dominant, germline loss-of-function mutations in the SOCS1 gene in ten patients from five unrelated families with early onset autoimmune manifestations. The intracellular protein SOCS1 is known to downregulate cytokine signaling by inhibiting the JAK-STAT pathway. Accordingly, patient-derived lymphocytes exhibit increased STAT activation in vitro in response to interferon-γ, IL-2 and IL-4 that is reverted by the JAK1/JAK2 inhibitor ruxolitinib. This effect is associated with a series of in vitro and in vivo immune abnormalities consistent with lymphocyte hyperactivity. Hence, SOCS1 haploinsufficiency causes a dominantly inherited predisposition to early onset autoimmune diseases related to cytokine hypersensitivity of immune cells.

Published
2020

8. HLA-DR expression on monocytes and outcome of anti-CD19 CAR T-cell therapy for large B-cell lymphoma

Author

Bourbon, Estelle, Sesques, Pierre, Gossez, Morgane, Tordo, Jérémie, Ferrant, Emmanuelle, Safar, Violaine, Wallet, Florent, Aussedat, Guillaume, Maarek, Alizée, Bouafia, Fadhela, Karlin, Lionel, Ghergus, Dana, Golfier, Camille, Lequeu, Hélène, Lazareth, Anne, Schwiertz, Vérane, Viel, Sébastien, Idlhaj, Maryam, Ghesquières, Hervé, Monneret, Guillaume, Bachy, Emmanuel, and Venet, Fabienne

Published
2023
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9. DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling

Author

Tusseau, Maud, Lovšin, Ema, Samaille, Charlotte, Pescarmona, Rémi, Mathieu, Anne-Laure, Maggio, Maria-Cristina, Selmanović, Velma, Debeljak, Marusa, Dachy, Angelique, Novljan, Gregor, Janin, Alexandre, Januel, Louis, Gibier, Jean-Baptiste, Chopin, Emilie, Rouvet, Isabelle, Goncalves, David, Fabien, Nicole, Rice, Gillian I, Lesca, Gaétan, Labalme, Audrey, Romagnani, Paola, Walzer, Thierry, Viel, Sebastien, Perret, Magali, Crow, Yanick J., Avčin, Tadej, Cimaz, Rolando, and Belot, Alexandre

Published
2022
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10. Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts

Author

Campion, Dominique, Dartigues, Jean-Francois, Deleuze, Jean-François, Genin, Emmanuelle, Lambert, Jean-Charles, Redon, Richard, Allain-Launay, Emma, Bader-Meunier, Brigitte, Belot, Alexandre, Bouayed, Kenza, Burtey, Stephane, Carbasse, Aurélia, Decramer, Stéphane, Despert, Véronique, Fain, Olivier, Fischbach, Michel, Flodrops, Hugues, Galeotti, Caroline, Hachulla, Eric, Hatchuel, Yves, Kleinmann, Jean-Francois, Kone-Paut, Isabelle, Lanteri, Aurélia, Lemelle, Irène, Maillard, Hélène, Maurier, François, Meinzer, Ulrich, Melki, Isabelle, Morell-Dubois, Sandrine, Pagnier, Anne, Piram, Maryam, Ranchin, Bruno, Reumaux, Héloise, Samaille, Charlotte, Sibilia, Jean, Weill, Olivia, Al-Abadi, Eslam, Armon, Kate, Bailey, Kathryn, Beresford, Michael, Brennan, Mary, Ciurtin, Coziana, Gardner-Medwin, Janet, Haslam, Kirsty, Hawley, Daniel, Leahy, Alice, Leone, Valentina, Mewar, Devesh, Moots, Rob, Pilkington, Clarissa, Ramanan, Athimalaipet, Rangaraj, Satyapal, Ratcliffe, Annie, Riley, Philip, Sen, Ethan, Sridhar, Arani, Wilkinson, Nick, Wood, Fiona, Rice, Gillian I, Omarjee, Sulliman Ommar, Rouchon, Quentin, Smith, Eve M D, Moreews, Marion, Tusseau, Maud, Frachette, Cécile, Bournhonesque, Raphael, Thielens, Nicole, Gaboriaud, Christine, Rouvet, Isabelle, Chopin, Emilie, Hoshino, Akihiro, Latour, Sylvain, Cimaz, Rolando, Romagnani, Paula, Malcus, Christophe, Fabien, Nicole, Sarda, Marie-Nathalie, Kassai, Behrouz, Lega, Jean-Christophe, Abou-Jaoude, Pauline, Bruce, Ian N, Simonet, Thomas, Bardel, Claire, Rollat-Farnier, Pierre Antoine, Viel, Sebastien, O'Sullivan, James, Walzer, Thierry, Mathieu, Anne-Laure, Marenne, Gaelle, Ludwig, Thomas, Ellingford, Jamie, Briggs, Tracy A, Beresford, Michael W, and Crow, Yanick J

Published
2020
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11. Pre–Covid-19, SARS-CoV-2–Negative Multisystem Inflammatory Syndrome in Children

Author

Benezech, Sarah, primary, Khoryati, Liliane, additional, Cognard, Jade, additional, Netea, Stejara A., additional, Khan, Taushif, additional, Moreews, Marion, additional, Saker, Kahina, additional, De Guillebon, Jean-Marie, additional, Khaldi-Plassart, Samira, additional, Pescarmona, Rémi, additional, Viel, Sebastien, additional, Malcus, Christophe, additional, Perret, Magali, additional, Ar Gouilh, Meriadeg, additional, Vabret, Astrid, additional, Venet, Fabienne, additional, Remy, Solenn, additional, Chopin, Emilie, additional, Lina, Gérard, additional, Vandenesch, François, additional, Rousseaux, Noëmi, additional, Bastard, Paul, additional, Zhang, Shen-Ying, additional, Casanova, Jean-Laurent, additional, Trouillet-Assant, Sophie, additional, Walzer, Thierry, additional, Kuijpers, Taco W., additional, Javouhey, Etienne, additional, Dauwalder, Olivier, additional, Marr, Nico, additional, and Belot, Alexandre, additional

Published
2023
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13. High-efficiency transgene integration by homology-directed repair in human primary cells using DNA-PKcs inhibition

Author

Selvaraj, Sridhar, primary, Feist, William N., additional, Viel, Sebastien, additional, Vaidyanathan, Sriram, additional, Dudek, Amanda M., additional, Gastou, Marc, additional, Rockwood, Sarah J., additional, Ekman, Freja K., additional, Oseghale, Aluya R., additional, Xu, Liwen, additional, Pavel-Dinu, Mara, additional, Luna, Sofia E., additional, Cromer, M. Kyle, additional, Sayana, Ruhi, additional, Gomez-Ospina, Natalia, additional, and Porteus, Matthew H., additional

Published
2023
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16. PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator–dependent autoimmunity

Author

Mathieu, Anne-Laure, Verronese, Estelle, Rice, Gillian I., Fouyssac, Fanny, Bertrand, Yves, Picard, Capucine, Chansel, Marie, Walter, Jolan E., Notarangelo, Luigi D., Butte, Manish J., Nadeau, Kari Christine, Csomos, Krisztian, Chen, David J., Chen, Karin, Delgado, Ana, Rigal, Chantal, Bardin, Christine, Schuetz, Catharina, Moshous, Despina, Reumaux, Héloïse, Plenat, François, Phan, Alice, Zabot, Marie-Thérèse, Balme, Brigitte, Viel, Sébastien, Bienvenu, Jacques, Cochat, Pierre, van der Burg, Mirjam, Caux, Christophe, Kemp, E. Helen, Rouvet, Isabelle, Malcus, Christophe, Méritet, Jean-Francois, Lim, Annick, Crow, Yanick J., Fabien, Nicole, Ménétrier-Caux, Christine, De Villartay, Jean-Pierre, Walzer, Thierry, and Belot, Alexandre

Published
2015
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18. Genetically Corrected RAG2-SCID Human Hematopoietic Stem Cells Restore V(D)J-Recombinase and Rescue Lymphoid Deficiency

Author

Pavel-Dinu, Mara, primary, Gardner, Cameron L., additional, Nakauchi, Yusuke, additional, Kawai, Tomoki, additional, Delmonte, Ottavia M, additional, Palterer, Boaz, additional, Bosticardo, Marita, additional, Pala, Francesca, additional, Viel, Sebastien, additional, Malech, Harry L., additional, Ghanim, Hana Y., additional, Bode, Nicole N., additional, Kurgan, Gavin L., additional, Vakulskas, Christopher A., additional, Sheikali, Adam, additional, Menezes, Sherah T., additional, Chrobok, Jade, additional, Gonzalez, Elaine M. Hernandez, additional, Majeti, Ravindra, additional, Notarangelo, Luigi D., additional, and Porteus, Matthew H., additional

Published
2022
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22. Multiparametric Flow Cytometry Evaluation of CD200L/CD200R- LSC/NK Synapse Including Leukemia Stem Cell (LSC) Fraction As a Potential Therapeutic Target and Marker of NK Cell Exhaustion in Pediatric AML-Conect-AML French Collaborative Network

Author

Plesa, Adriana, primary, Cadassou, Octavia, additional, Gutrin, Joris, additional, Villard, Marine, additional, Roumier, Christophe, additional, Cheok, Meyling, additional, Dumezy, Florent, additional, Preudhomme, Claude, additional, Lapillonne, Hélène, additional, Petit, Arnaud, additional, Leverger, Guy, additional, Halfon-Domenech, Carine, additional, Renard, Cecile, additional, Bertrand, Yves, additional, Dumontet, Charles, additional, Viel, Sebastien, additional, Maguer-Satta, Veronique, additional, and Walzer, Thierry, additional

Published
2021
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23. DNASE1L3 Deficiency, New Phenotypes and Evidence for a Transient Type I Interferon Signaling

Author

Tusseau, Maud, primary, Lovšin, Ema, additional, Samaille, Charlotte, additional, Pescarmona, Remi, additional, Maggio, Maria Cristina, additional, Selmanovic, Velma, additional, Debeljak, Marusa, additional, Dachy, Angelique, additional, Janin, Alexandre, additional, Januel, Louis, additional, Mathieu, Anne-Laure, additional, Gibier, Jean Baptiste, additional, Chopin, Emilie, additional, Rouvet, Isabelle, additional, Goncalves, David, additional, Fabien, Nicole, additional, Rice, Gillian, additional, Labalme, Audrey, additional, Romagnani, Paolo, additional, Lesca, Gaetan, additional, Walzer, Thierry, additional, Viel, Sebastien, additional, Perret, Magali, additional, Crow, Yannick, additional, Avčin, Tadej, additional, Cimaz, Rolando, additional, and Belot, Alexandre, additional

Published
2021
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24. Low incidence of COVID-19 severe complications in a large cohort of children with sickle cell disease: a protective role for basal interferon-1 activation?

Author

Brousse, Valentine, primary, Holvoet, Laurent, additional, Pescarmona, Rémi, additional, Viel, Sebastien, additional, Perret, Magali, additional, Visseaux, Benoit, additional, Ferre, Valentine Marie, additional, Ithier, Ghislaine, additional, Le Van Kim, Caroline, additional, Benkerrou, Malika, additional, Missud, Florence, additional, and Koehl, Berengere, additional

Published
2021
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25. Additional file 1 of Longitudinal assessment of IFN-I activity and immune profile in critically ill COVID-19 patients with acute respiratory distress syndrome

Author

Venet, Fabienne, Cour, Martin, Rimmelé, Thomas, Viel, Sebastien, Hodane Yonis, Coudereau, Remy, Amaz, Camille, Abraham, Paul, Monard, Céline, Jean-Sebastien Casalegno, Brengel-Pesce, Karen, Anne-Claire Lukaszewicz, Argaud, Laurent, and Monneret, Guillaume

Subjects
bacteria, biochemical phenomena, metabolism, and nutrition
Abstract

Additional file 1. Table S1. Immune response in critically ill COVID-19 patients, Table S2. Immune response in critically ill COVID-19 patients with or without ARDS, Table S3. Immune response in critically COVID-19 patients with ARDS according to status at D28, Table S4. Numbers of available values for each immune parameter at each time point; Figure S1. Flowchart and Survival Curves and Figure S2. Impact of viral load at admission.

Published
2021
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27. Type I IFN immunoprofiling in COVID-19 patients

Author

Mouton, William, Oriol, Guy, Compagnon, Christelle, Generenaz, Laurence, Cheynet, Valérie, Ader, Florence, Becker, Agathe, Benech, Nicholas, Chauvelot, Pierre, Chidiac, Christian, Conrad, Anne, Ferry, Tristan, Miailhes, Patrick, Perpoint, Thomas, Perry, Marielle, Pouderoux, Cécile, Roux, Sandrine, Triffault-Fillit, Claire, Valour, Florent, Hodane, Yonis, Chauvelot, Louis, Chabert, Paul, Provoost, Judith, David, Guillaume, Folliet, Laure, Lecam, Pierre, Billaud, Geneviève, Bouscambert, Maude, Escuret, Vanessa, Frobert, Emilie, Bal, Antonin, Destras, Grégory, Josset, Laurence, Morfin, Florence, Munier, Clément, Valette, Martine, Venet, Fabienne, Garnier, Lorna, Pescarmona, Rémi, Lombard, Christine, Walzer, Thierry, Trouillet-Assant, Sophie, Viel, Sebastien, Gaymard, Alexandre, Pons, Sylvie, Richard, Jean-Christophe, Perret, Magali, Villard, Marine, Brengel-Pesce, Karen, Lina, Bruno, Mezidi, Mehdi, Bitker, Laurent, and Belot, Alexandre

Published
2020
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28. Type I IFN immunoprofiling in COVID-19 patients

Author

Trouillet-Assant, Sophie, primary, Viel, Sebastien, additional, Gaymard, Alexandre, additional, Pons, Sylvie, additional, Richard, Jean-Christophe, additional, Perret, Magali, additional, Villard, Marine, additional, Brengel-Pesce, Karen, additional, Lina, Bruno, additional, Mezidi, Mehdi, additional, Bitker, Laurent, additional, Belot, Alexandre, additional, Mouton, William, additional, Oriol, Guy, additional, Compagnon, Christelle, additional, Generenaz, Laurence, additional, Cheynet, Valérie, additional, Ader, Florence, additional, Becker, Agathe, additional, Benech, Nicholas, additional, Chauvelot, Pierre, additional, Chidiac, Christian, additional, Conrad, Anne, additional, Ferry, Tristan, additional, Miailhes, Patrick, additional, Perpoint, Thomas, additional, Perry, Marielle, additional, Pouderoux, Cécile, additional, Roux, Sandrine, additional, Triffault-Fillit, Claire, additional, Valour, Florent, additional, Hodane, Yonis, additional, Chauvelot, Louis, additional, Chabert, Paul, additional, Provoost, Judith, additional, David, Guillaume, additional, Folliet, Laure, additional, Lecam, Pierre, additional, Billaud, Geneviève, additional, Bouscambert, Maude, additional, Escuret, Vanessa, additional, Frobert, Emilie, additional, Bal, Antonin, additional, Destras, Grégory, additional, Josset, Laurence, additional, Morfin, Florence, additional, Munier, Clément, additional, Valette, Martine, additional, Venet, Fabienne, additional, Garnier, Lorna, additional, Pescarmona, Rémi, additional, Lombard, Christine, additional, and Walzer, Thierry, additional

Published
2020
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29. Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts

Author

Belot, Alexandre, primary, Rice, Gillian I, additional, Omarjee, Sulliman Ommar, additional, Rouchon, Quentin, additional, Smith, Eve M D, additional, Moreews, Marion, additional, Tusseau, Maud, additional, Frachette, Cécile, additional, Bournhonesque, Raphael, additional, Thielens, Nicole, additional, Gaboriaud, Christine, additional, Rouvet, Isabelle, additional, Chopin, Emilie, additional, Hoshino, Akihiro, additional, Latour, Sylvain, additional, Ranchin, Bruno, additional, Cimaz, Rolando, additional, Romagnani, Paula, additional, Malcus, Christophe, additional, Fabien, Nicole, additional, Sarda, Marie-Nathalie, additional, Kassai, Behrouz, additional, Lega, Jean-Christophe, additional, Decramer, Stéphane, additional, Abou-Jaoude, Pauline, additional, Bruce, Ian N, additional, Simonet, Thomas, additional, Bardel, Claire, additional, Rollat-Farnier, Pierre Antoine, additional, Viel, Sebastien, additional, Reumaux, Héloise, additional, O'Sullivan, James, additional, Walzer, Thierry, additional, Mathieu, Anne-Laure, additional, Marenne, Gaelle, additional, Ludwig, Thomas, additional, Genin, Emmanuelle, additional, Ellingford, Jamie, additional, Bader-Meunier, Brigitte, additional, Briggs, Tracy A, additional, Beresford, Michael W, additional, Crow, Yanick J, additional, Campion, Dominique, additional, Dartigues, Jean-Francois, additional, Deleuze, Jean-François, additional, Lambert, Jean-Charles, additional, Redon, Richard, additional, Allain-Launay, Emma, additional, Belot, Alexandre, additional, Bouayed, Kenza, additional, Burtey, Stephane, additional, Carbasse, Aurélia, additional, Despert, Véronique, additional, Fain, Olivier, additional, Fischbach, Michel, additional, Flodrops, Hugues, additional, Galeotti, Caroline, additional, Hachulla, Eric, additional, Hatchuel, Yves, additional, Kleinmann, Jean-Francois, additional, Kone-Paut, Isabelle, additional, Lanteri, Aurélia, additional, Lemelle, Irène, additional, Maillard, Hélène, additional, Maurier, François, additional, Meinzer, Ulrich, additional, Melki, Isabelle, additional, Morell-Dubois, Sandrine, additional, Pagnier, Anne, additional, Piram, Maryam, additional, Samaille, Charlotte, additional, Sibilia, Jean, additional, Weill, Olivia, additional, Al-Abadi, Eslam, additional, Armon, Kate, additional, Bailey, Kathryn, additional, Beresford, Michael, additional, Brennan, Mary, additional, Ciurtin, Coziana, additional, Gardner-Medwin, Janet, additional, Haslam, Kirsty, additional, Hawley, Daniel, additional, Leahy, Alice, additional, Leone, Valentina, additional, Mewar, Devesh, additional, Moots, Rob, additional, Pilkington, Clarissa, additional, Ramanan, Athimalaipet, additional, Rangaraj, Satyapal, additional, Ratcliffe, Annie, additional, Riley, Philip, additional, Sen, Ethan, additional, Sridhar, Arani, additional, Wilkinson, Nick, additional, and Wood, Fiona, additional

Published
2020
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30. Anti-MDA5 juvenile idiopathic inflammatory myopathy: a specific subgroup defined by differentially enhanced interferon-α signalling

Author

Melki, Isabelle, primary, Devilliers, Hervé, additional, Gitiaux, Cyril, additional, Bondet, Vincent, additional, Duffy, Darragh, additional, Charuel, Jean-Luc, additional, Miyara, Makoto, additional, Bokov, Plamen, additional, Kheniche, Ahmed, additional, Kwon, Theresa, additional, Authier, François Jérôme, additional, Allenbach, Yves, additional, Belot, Alexandre, additional, Bodemer, Christine, additional, Bourrat, Emmanuelle, additional, Dumaine, Cécile, additional, Fabien, Nicole, additional, Faye, Albert, additional, Frémond, Marie-Louise, additional, Hadchouel, Alice, additional, Kitabayashi, Naoki, additional, Lepelley, Alice, additional, Martin-Niclos, Maria José, additional, Mudumba, Sasi, additional, Musset, Lucile, additional, Quartier, Pierre, additional, Rice, Gillian I, additional, Seabra, Luis, additional, Uettwiller, Florence, additional, Uggenti, Carolina, additional, Viel, Sebastien, additional, Rodero, Mathieu P, additional, Crow, Yanick J, additional, and Bader-Meunier, Brigitte, additional

Published
2019
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31. Synapse immunologique LSC-NK dans les LAM : étude de l’expression des ligands NK sur les cellules souches leucémiques CD34+CD38- (LSC) dans le diagnostic des Leucémies aiguës myéloïdes (LAM) et corrélation avec le statut de l’immunité NK (phénotype et fonction) afin d’identifier l’implication pronostique et des éventuels cibles thérapeutiques via l’interaction NK-LSC

Author

Denis, Morgane, Villard, Marine, Geistlich, Kevin, Viel, Sebastien, Hoerner, Clarisse, Manzoni, Delphine, Dumezy, Florent, Roumier, Christophe, Meyling Cheok, Walzer, Thierry, Dommenech, Carine, Sujobert, Pierre, Dumontet, Charles, Bertrand, Yves, Thomas, Xavier, Maguer-Satta, Veronique, and Plesa, Adriana

Published
2018
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32. Monogenic lupus: Dissecting heterogeneity

Author

Omarjee, Ommar, primary, Picard, Cécile, additional, Frachette, Cécile, additional, Moreews, Marion, additional, Rieux-Laucat, Frederic, additional, Soulas-Sprauel, Pauline, additional, Viel, Sebastien, additional, Lega, Jean-Christophe, additional, Bader-Meunier, Brigitte, additional, Walzer, Thierry, additional, Mathieu, Anne-Laure, additional, Cimaz, Rolando, additional, and Belot, Alexandre, additional

Published
2019
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33. COPA Syndrome as a Cause of Lupus Nephritis

Author

Boulisfane-El Khalifi, Siham, primary, Viel, Sebastien, additional, Lahoche, Annie, additional, Frémond, Marie-Louise, additional, Lopez, Jonathan, additional, Lombard, Christine, additional, Dubos, Francois, additional, Reumaux, Héloise, additional, Gnemmi, Viviane, additional, Legendre, Marie, additional, Crow, Yanick J., additional, Thumerelle, Caroline, additional, and Belot, Alexandre, additional

Published
2019
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34. Longitudinal assessment of IFN-I activity and immune profile in critically ill COVID-19 patients with acute respiratory distress syndrome.

Author

Venet, Fabienne, Cour, Martin, Rimmelé, Thomas, Viel, Sebastien, Yonis, Hodane, Coudereau, Remy, Amaz, Camille, Abraham, Paul, Monard, Céline, Casalegno, Jean-Sebastien, Brengel-Pesce, Karen, Lukaszewicz, Anne-Claire, Argaud, Laurent, Monneret, Guillaume, the RICO study group, Pescarmona, Remi, Garnier, Lorna, Lombard, Christine, Perret, Magali, and Villard, Marine

Abstract

Background: Since the onset of the pandemic, only few studies focused on longitudinal immune monitoring in critically ill COVID-19 patients with acute respiratory distress syndrome (ARDS) whereas their hospital stay may last for several weeks. Consequently, the question of whether immune parameters may drive or associate with delayed unfavorable outcome in these critically ill patients remains unsolved.Methods: We present a dynamic description of immuno-inflammatory derangements in 64 critically ill COVID-19 patients including plasma IFNα2 levels and IFN-stimulated genes (ISG) score measurements.Results: ARDS patients presented with persistently decreased lymphocyte count and mHLA-DR expression and increased cytokine levels. Type-I IFN response was initially induced with elevation of IFNα2 levels and ISG score followed by a rapid decrease over time. Survivors and non-survivors presented with apparent common immune responses over the first 3 weeks after ICU admission mixing gradual return to normal values of cellular markers and progressive decrease of cytokines levels including IFNα2. Only plasma TNF-α presented with a slow increase over time and higher values in non-survivors compared with survivors. This paralleled with an extremely high occurrence of secondary infections in COVID-19 patients with ARDS.Conclusions: Occurrence of ARDS in response to SARS-CoV2 infection appears to be strongly associated with the intensity of immune alterations upon ICU admission of COVID-19 patients. In these critically ill patients, immune profile presents with similarities with the delayed step of immunosuppression described in bacterial sepsis. [ABSTRACT FROM AUTHOR]

Published
2021
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37. Anti-MDA5 juvenile idiopathic inflammatory myopathy: a specific subgroup defined by differentially enhanced interferon-α signalling.

Author

Melki I, Devilliers H, Gitiaux C, Bondet V, Duffy D, Charuel JL, Miyara M, Bokov P, Kheniche A, Kwon T, Authier FJ, Allenbach Y, Belot A, Bodemer C, Bourrat E, Dumaine C, Fabien N, Faye A, Frémond ML, Hadchouel A, Kitabayashi N, Lepelley A, Martin-Niclos MJ, Mudumba S, Musset L, Quartier P, Rice GI, Seabra L, Uettwiller F, Uggenti C, Viel S, Rodero MP, Crow YJ, and Bader-Meunier B

Subjects
Adolescent, Child, Child, Preschool, Female, Humans, Male, Muscle, Skeletal immunology, Muscle, Skeletal pathology, Myositis immunology, Myositis pathology, Prospective Studies, Retrospective Studies, Autoantibodies immunology, Interferon-Induced Helicase, IFIH1 immunology, Interferon-alpha metabolism, Muscle, Skeletal metabolism, Myositis metabolism, Signal Transduction physiology
Abstract

Objectives: JDM and juvenile overlap myositis represent heterogeneous subtypes of juvenile idiopathic inflammatory myopathy (JIIM). Chronic evolution can occur in up to 60% of cases, and morbidity/mortality is substantial. We aimed to describe the clinical, biological, histological and type I IFN status in JIIM associated with anti-melanoma differentiation-associated protein 5 (anti-MDA5) autoantibodies at presentation (group 1) in comparison with other JIIM (group 2)., Methods: This was a retrospective and prospective study of patients with JIIM ascertained from three French paediatric rheumatology reference centres between 2013 and 2019. Muscle biopsies were reviewed. Type I interferon pathway activity was assessed by dosage of IFNα serum protein and the expression of IFN-stimulated genes., Results: Sixty-four patients were included, 13 in group 1 (54% JDM and 46% juvenile overlap myositis) and 51 in group 2 (76% JDM and 24% juvenile overlap myositis). Group 1 patients demonstrated more arthritis, skin ulcerations, lupus features and interstitial lung disease, and a milder muscular involvement. Serum IFNα levels were higher in group 1 than 2, and decreased after treatment or improvement in both groups. Outcome was similar in both groups. Unconventional treatment (more than two lines) was required in order to achieve remission, especially when skin ulceration was reported., Conclusion: This study indicates a higher frequency of arthritis, skin ulcerations and interstitial lung disease, but milder muscular involvement, in JIIM with positive anti-MDA5 autoantibodies compared with other JIIM. Our data support an important role of systemic IFNα in disease pathology, particularly in the anti-MDA5 auto-antibody-positive subgroup. In severe and refractory forms of JIIM, IFNα may represent a therapeutic target., (© The Author(s) 2019. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For permissions, please email: journals.permissions@oup.com.)

Published
2020
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38. Adolescence: a transient period of proprioceptive neglect in sensory integration of postural control.

Author

Viel S, Vaugoyeau M, and Assaiante C

Subjects
Adolescent, Adult, Age Factors, Attention, Biomechanical Phenomena, Female, Humans, Kinesthesis, Male, Orientation, Sensory Deprivation, Sex Factors, Visual Perception, Young Adult, Perceptual Disorders psychology, Postural Balance, Proprioception
Abstract

In the current study, we adopted the hypothesis that the body scheme disturbances occurring during adolescence might lead subjects to transiently neglect proprioceptive information and that adolescents might rely more strongly on vision to control their orientation and stabilize their body. To check this point, we asked adolescents 14-15 years to maintain vertical stance while very slow sinusoidal oscillations in the frontal plane were applied to the supporting platform at 0.01 Hz (below the detection threshold of the semicircular canal system) and at 0.06 Hz (above) with the eyes open and closed. Two postural components, orientation and segmental stabilization, were analyzed at the head, shoulder, trunk, and pelvis levels. At the lowest frequency without vision, the performances of adolescents were much less efficient than those of adults. Moreover, this study showed that vision plays a predominant role in adolescents' control of orientation and body stabilization. At 0.06 Hz without vision, a clearcut difference was observed between the strategies used by girls and boys; specifically, the maturation of the segmental stabilization processes was found to be more advanced in girls than in boys. However, no such difference was observed at 0.01 Hz. Lastly, comparisons between the data obtained in adolescents and those previously obtained in young adults (Vaugoyeau, Viel, Amblard, Azulay, & Assaiante, 2008) clearly show that adolescents use different postural strategies and that they are not yet capable of reaching comparable postural performance levels to those observed in adults. Because adolescents were not able to use the proprioceptive information available to improve their postural control, we concluded that they showed a maturational lag in comparison with adults. This suggests that the mechanisms underlying postural control are still maturing during adolescence, which might constitute a transient period of proprioceptive neglect in sensory integration of postural control.

Published
2009
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